Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
Nishiyori
A
A
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Yoshino
M
M
Tananari
Y
Y
Matsuura
T
T
Hoshide
R
R
Mastuda
I
I
Mori
M
M
Kato
H
H
D017668:Age of Onset; D019943:Amino Acid Substitution; D000641:Ammonia / Q000097:blood*; D000818:Animals; D001224:Aspartic Acid; D019556:COS Cells; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000378:metabolism; D014443:Tyrosine
D012333:RNA, Messenger; D001224:Aspartic Acid; D014443:Tyrosine; D000641:Ammonia; D004247:DNA; D009954:Ornithine Carbamoyltransferase